A Rare Genetic Association of an NPHP2 Mutation With Nephronophthisis in a Child With Bombay Blood Group

Journal of Medical Cases · Published 2026-06-03 · DOI 10.14740/jmc5309

Free full text

Authors (5)

Bassil Leghrouz, Tariq Hindi, Ihab Hilo, Alex Ballout, Musa Hindiyeh

Abstract

PubPorta does not have an abstract for this article yet.

Read the article at the publisher →

Publication details

Year

2026

Citation

Leghrouz, B., Hindi, T., Hilo, I., et al. (2026). A Rare Genetic Association of an NPHP2 Mutation With Nephronophthisis in a Child With Bombay Blood Group. Journal of Medical Cases. https://doi.org/10.14740/jmc5309

Related articles

• Complex Oncologic Surgery in a Nonagenarian With Severe Aortic Stenosis: Integration of Enhanced Recovery After Surgery Protocol, Total Intravenous Anesthesia, and Advanced Hemodynamic Monitoring · Journal of Medical Cases · 2026 · Same journal
• Local Urticarial Reaction Above the Site of an Intravenous Cannula: Possible Allergy to Remimazolam in a Fourteen-Year-Old Adolescent · Journal of Medical Cases · 2026 · Same journal
• A Delicate Balance: Immunotherapy for Endometrial Cancer in a Patient With Multiple Sclerosis · Journal of Medical Cases · 2026 · Same journal
• Postoperative Adjuvant Treatment Decision for Early Epstein–Barr Virus-Associated Gastric Cancer · Journal of Medical Cases · 2026 · Same journal
• Vertebral Artery Dissection and Cerebellar Stroke in a Young Patient Following Neck Manipulation · Journal of Medical Cases · 2026 · Same journal
• An Atypical Case of Superior Vena Cava Syndrome Due to Sarcomatoid Lung Cancer With Pericardial Metastasis · Journal of Medical Cases · 2026 · Same journal
• Geroderma Osteodysplastica in Two Patients: Clinical, Genetic, and Management Insights · Journal of Medical Cases · 2026 · Same journal
• Extranodal Marginal Zone B-cell Lymphoma Presenting as a Painless Buccal Mass in the Masticator Space · Journal of Medical Cases · 2026 · Same journal
• Perioperative Care of a Six-Year-Old Child With Atlanto-Occipital Dislocation: A Focus on Techniques of Airway Management · Journal of Medical Cases · 2026 · Same journal
• A Rare Presentation of Left Ventricular Noncompaction Cardiomyopathy Revealed by Acute Decompensated Heart Failure · Journal of Medical Cases · 2026 · Same journal